This morning, Invitae announced an expansion of our genetic testing offering, adding hundreds of additional genes and expanded panels for neurology, pediatrics, and rare diseases. In addition, we’ve also introduced an entirely new clinical testing area designed to complement newborn screening for metabolic and immunological conditions.

With this expanded test menu, we will be able to provide high-quality genetic information for a greatly expanded number of genes and disorders, at the same price and with the same three-week average turnaround time.

“We are proud to now offer more comprehensive testing panels for patients who may be suffering from a variety of disorders, including neuromuscular, pediatric, and a host of rare conditions. We’re also now introducing testing for inherited metabolic conditions and immunodeficiencies that are part of most newborn screening programs,” said Randy Scott, co-founder of Invitae.

Invitae’s expanded offering includes:

Expanded neurological menu: Testing for more than 30 disorders including muscular dystrophies, myopathies, as well as congenital myasthenic syndrome (CMS) and malignant hyperthermia susceptibility

New inherited metabolic disorders and newborn screening confirmation: Testing that covers the majority of metabolic diseases for which over 4 million U.S. newborns are screened each year plus a panel covering the common congenital disorders of glycosylation

Expanded neuromuscular panels

Invitae’s neurology offering now includes comprehensive testing for muscular dystrophies, myopathies, and congenital myasthenic syndrome, and tests for conditions such as small fiber neuropathy and malignant hyperthermia susceptibility. Invitae has designed its neurology testing panels to be indication-based, to guide appropriate testing consistent with clinical presentation and diagnostic muscle biopsy.

“As an advocate for people with muscle disease, I see firsthand how important it is to have a genetic diagnosis,” said Sarah Foye, Congenital Muscle Disease International Registry (CMDIR) governing board president. “A comprehensive panel can help families find an answer quickly and potentially guide them to the best care for that condition, leading to improved health and quality of life. A firm genetic diagnosis can also help to predict medical risks associated with that specific condition, and is often required to access a clinical trial working towards a treatment. As a mom and advocate, I know how critical finding an answer is.”

Tom Winder, PhD, FACMG, medical geneticist at Invitae, said: “Our neuromuscular panels are thoughtfully designed and structured for flexible ordering based on clinical presentation and observations from neuropathology, which is unique. This update to our neurology offering gives clinicians strong, affordable testing options, especially for highly heterogeneous disorders like the muscular dystrophies.”

Pediatric and rare disease panels

Invitae’s pediatric testing menu now covers pediatric immunology, including the most common forms of severe combined immunodeficiency (SCID) and periodic fever syndromes. Invitae has also expanded its rare disease offering to include testing for 20 additional rare diseases, including Batten disease, Carpenter syndrome, and cerebral cavernous malformations, among other conditions.

“The sooner an expanded testing panel is employed in the diagnosis of an acutely ill, undiagnosed child, the greater the value of the test in terms of reducing other diagnostic expenses and speeding beneficial care,” said Steven Bleyl, MD, PhD, medical director, Clinical Genetics Institute at Intermountain Healthcare. “Both lower costs and lab efforts to improve accessibility help me maximize this value for my patients.”

“Pediatric rare diseases can be a roller coaster for families, especially when looking for answers and treatments,” said Allison Moore, founder and CEO, Hereditary Neuropathy Foundation. “Breaking down the barriers to lower costs and increase accessibility will help us move more quickly to an accurate diagnosis of rare pediatric diseases, saving children and their families from extended diagnostic odysseys that waste time and money and take a steep emotional toll on families.”

Invitae has also added disorders of sex determination and dermatologic disorders to its pediatric testing menu, among other additional specific syndromes, in order to broaden its overall pediatric offering.

“Having seen so many parents searching tirelessly for answers for their children suffering from pediatric and rare conditions, my colleagues and I at Invitae are excited to be able to provide comprehensive, high-quality tests at prices that families can afford,” said Robert Nussbaum, MD, chief medical officer of Invitae. “Often a genetic test can provide these parents with definitive answers as to what is happening with their child, and the sooner we can get these answers, the more management options become available to the patient and the family. This can make all the difference to a child’s health and quality of life, and to a parent’s peace of mind.”

Every year, approximately 2% of the estimated 4 million new births in the U.S. result in a genetics related health condition for which genetic testing may be required. These babies are screened for inherited metabolic disorders by analysis of abnormal levels of various substances in newborn blood spots, known as analytes. The initial screens are limited in the number of conditions and genes they analyze and each positive result requires confirmation. Furthermore, approximately 10% of all newborn babies are transferred to a neonatal intensive care unit (NICU) each year, usually because of prematurity. A significant percentage of NICU babies will have abnormal newborn screening results that can be ambiguous because of the infants’ prematurity or the need for intravenous nutrition or other medical conditions. Genetic panel tests, such as those offered on Invitae’s metabolic/newborn screening test menu, provide an efficient, affordable option to help resolve these inconclusive cases.

“Time is of the essence in this field of testing—the longer inborn errors of metabolism go undetected and untreated, the greater the damage. Inherited metabolic disorders are complex, and require thorough answers,” said Olaf Bodamer, MD PhD, associate chief genetics and genomics at Boston Children’s Hospital. “Newborn screening is one of the greatest public health initiatives; it is, however, a screening test. Confirmatory genetic testing can lead to a diagnosis more quickly and allow for timely initiation of effective therapies, accurate genetic counseling, recurrence risk assessment, and carrier testing for family members.”

Many of these inborn errors of metabolism trigger serious health problems, including nutritional deficiencies, developmental disorders, and premature death. However, if these conditions are caught early, treatments and interventions can avert metabolic crises and their related health problems.

“A family with a baby that is seriously ill needs affordable answers they can trust,” said Nicole Boice, CEO and founder, Global Genes. “Making genetic testing more accessible will extend the power of newborn screening and help impact lives for the better. For babies testing positive for a serious condition, rapid identification and treatment can drastically change the impact of the disease on the child. Such testing can also eliminate lengthy periods of uncertainty during which unnecessary costs are incurred due to misdiagnosis.”

Invitae’s metabolic disorders offering is a strong option for clinicians seeking high-quality, broad, affordable testing for the vast majority of metabolic diseases on the U.S. Recommended Uniform Screening Panel as well as additional inherited metabolic disorders. Invitae offers panels based on disorder and/or analyte results, with flexible panels that clinicians can customize to reflect their own diagnoses and expertise. Invitae is currently the only laboratory to offer “differential diagnosis” panels based on which analyte or analytes are abnormal.

In addition, Invitae’s metabolic testing menu is a strong option for symptomatic patients who need testing after the newborn period, either because their condition is not one of the conditions screened for in the state in which the infant was born, is not detectable on newborn screening, was missed on newborn screening, or because newborn screening was never performed. Invitae’s metabolic disorders testing menu is also appropriate for symptomatic individuals born prior to the availability of expanded newborn screening. Many inherited metabolic conditions only become detectable biochemically during episodes of illness and stress, making DNA-based diagnostics a reliable form of testing even when the individual shows no signs of the disease at the time the test is performed.

“Invitae’s test menu for inherited metabolic disorders puts a significant new testing option in the hands of clinicians caring for families at a time of acute need, and allows us to serve a new group of patients seeking reliable, accessible genetic answers,” said Britt Johnson, PhD, FACMG, molecular and biochemical geneticist at Invitae. “Our panels based on abnormal analyte results allow clinicians to quickly assess the entire spectrum of possible diagnoses and avoid sequential testing—ultimately shortening the time to diagnosis and improving outcomes for patients.”